ClinGen Allele Registry
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Canonical Allele Identifier:
PA2826211407
Gene: LDLR
HGNC
NCBI
Linked Data - NCBI & NCI
ClinVar Allele:
245449
ClinVar RCV:
RCV000237660
RCV001857821
ClinVar Variation:
251106
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001182727.1:p.Asp90Tyr
CA10584820
NM_001195798.2:c.268G>T